A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273207



Internal ID22136733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1756206..1769704hg38UCSC Ensembl
Outerchr4:1757933..1771431hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38755
hg19755
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225506
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273207
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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